| Disease Information | ||||||
|---|---|---|---|---|---|---|
| Disease Name | Gene Name | Type | UMLS | Association Type | Score | Source |
| Spondyloperipheral dysplasia short ulna | COL2A1 | disease | C0796173 | GeneticVariation | 0.75 | orphanet , disgenet |
| Spondyloperipheral dysplasia short ulna | COL2A1 | disease | C0796173 | CausalMutation | 0.75 | orphanet , disgenet |
| Spondyloperipheral dysplasia short ulna | COL2A1 | disease | C0796173 | Biomarker | 0.75 | orphanet , disgenet |
| Spondyloperipheral dysplasia short ulna | COL2A1 | disease | C0796173 | GermlineCausalMutation | 0.75 | orphanet , disgenet |
| Spondyloperipheral dysplasia short ulna | SEMA3A | disease | C0796173 | Biomarker | 0.01 | disgenet |
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